Cleidocranial dysplasia case

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Cleidocranial dysplasia case is also called Scheuthauer-Marie-Sainton Syndrome A rare autosomal dominant condition, or mutation. Clinical features include exaggerated transverse diameter of cranium, delayed fontanelle closure, multiple wormian bones,frontal and parietal bossing, depressed nasal bridge,maxillary hypoplasia, underdeveloped paranasal sinuses, high arched palate (? cleft), delayed or failed tooth eruption, multiple supernumerary teeth, dentigerous cysts, aplastic or hypoplastic clavicles (shoulders can be approximated), short stature and other skeletal anomalies.

Diagnosis is from the family history and ability to bring together the shoulders; jaw, skull and skeletal radiography. Management is to leave unerupted teeth alone unless there are complications. Eruption of permanent teeth is retarded and dentigerous cysts are frequently found. Supernumerary teeth are common in cleidocranial dysplasia, especially in the anterior mandible. The crowns of the teeth are normal, but the roots can be short, thin and lack acellular cement. Surgery is often necessary

Case cenerio

  • A 10-years-old male child to our department with the chief complaints of disturbance in his dentition.
  • General physical examination revealed a thin built, short stature, narrow thorax, and ability to approximate his shoulders anteriorly.
  • He also had prominent forehead with frontal and occipital bossing, brachycephaly, mid-facial hypoplasia with depressed nasal bridge and hypertelorism and 
  • Intraoral examination revealed a –narrow high arched palate, -unilateral anterior and posterior crossbite,multiple carious and –retained deciduous teeth.

Etiology of Cleidocranial dysplasia case

Mutations in several genes

Recently: Mutation in core-binding factor alpha-1 (Cbfa1) gene root cause of disease

Cleidocranial-dysplasia-case

Characteristic Features:

1.Hypoplasia or agenesis of clavicle

2.Delayed ossification of the fontanels in the skull

3.Abnormalities in the cranial bones 4.Narrow thorax

ETIOLOGY

  • Cbfa1 belongs to the core binding (CBF) transcription factor which plays a major role in the formation of osteoblasts and differentiation of chondrocyte.
  • Mutation in Cbfa1 arrest both the endochondral and membranous bone formations and impair chondrocyte differentiation
  • cleido-, cleid- prefix meaning “clavicle” or collarbone
  • The collarbone is the first bone to begin the process of ossification (laying down of minerals onto a preformed matrix) during development of the embryo, during the fifth and sixth weeks of gestation

CLINICAL FEATURES

Skull:

  • Large open fontanels – remain open or shows delayed closure
  • Open sutures – skull appears flat (brachycephalic)
  • Wormian bones – common
  • Paranasal sinuses – underdeveloped

Clavicle:

  • Complete absence – 10% cases,
  • Partial absence or simple thinning of one or both clavicles
  • Others: Defective vertebral column, extremities and narrow pelvis

ORAL MANIFESTATIONS

Cleidocranial-dysplasia-case-image
  • High arched narrow palate
  • Prolonged retention of deciduous teeth with delayed  or failure  eruption of permanent teeth
  • Multiple carious lesions and Crossbite
  • Underdeveloped maxilla – Mandibular prognathism Ø Underdeveloped lacrimal and zygomatic bone
  • Supernumerary teeth
  • Absence or paucity of cellular cementum in permanent teeth – peculiar finding
  • Partial anodontia
  • Cleft palate – occasionally

RADIOGRAPHIC EXAMINATION

Cleidocranial-dysplasia-skull-radiograph
Cleidocranial-dysplasia-opg
  • Skull radiograph: Open anterior fontanel and sutures,
  • Chest radiograph: Absence or thinning of clavicles, spina bifida
  • Hands and feet radiograph: shortening and broadening of carpel, metacarpal, tarsal, metatarsals
  • OPG:-    Retained deciduous teeth -Multiple impacted permanent teeth and -supernumerary teeth

TREATMENT AND PROGNOSIS

  • Life expectancy of patients – Normal
  • Female: Complications during delivery due to? Narrow Pelvic Bone
  • No specific treatment
  • Oral rehabilitation – Important
  • Retained deciduous teeth – often preserved – since permanent teeth may fail to erupt after extraction

In favorable patient –

  • Surgical exposure of retained permanent teeth – then orthodontic consultation –
  • Narrow palate: Arch expansion
  • Crossbite: Orthodontic
  • Caries: Restoration
  • Retention of primary teeth -Failure of eruption of permanent teeth

Note it Delayed tooth eruption seen in
• Malposed or impacted teeth
• Cyst
• Odontoma
• Sclerosed bone
• Tumor
• Mal-development
• Cleidocranial dysplasia
• Hypothyroidism

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